First report of Tunisian patients with CDKL5‐related encephalopathy
Chahnez Charfi Triki,
Salma Zouari Mallouli,
Marwa Ben Jdila
et al.
Abstract:Objective:Mutations in the cyclin‐dependent kinase‐like 5 gene (CDKL5) are associated with a wide spectrum of clinical presentations. Early‐onset epileptic encephalopathy (EOEE) is the most recognized phenotype. Here we describe phenotypic features in 8 Tunisian patients with CDKL5‐related encephalopathy.Methods:We included all cases with clinical features consistent with CDKL5‐related encephalopathy: infantile epileptic spasm, acquired microcephaly, movement disorders and visual impairment. We collected data … Show more
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